Incidental Mutation 'R1211:Erlec1'
| ID |
100697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erlec1
|
| Ensembl Gene |
ENSMUSG00000020311 |
| Gene Name |
endoplasmic reticulum lectin 1 |
| Synonyms |
4933407N01Rik |
| MMRRC Submission |
039280-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30880774-30904335 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 30898298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073192]
[ENSMUST00000073192]
[ENSMUST00000129593]
[ENSMUST00000203878]
|
| AlphaFold |
Q8VEH8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073192
|
| SMART Domains |
Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
111 |
199 |
6.6e-21 |
PFAM |
|
Pfam:PRKCSH
|
342 |
421 |
2e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000073192
|
| SMART Domains |
Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
111 |
199 |
6.6e-21 |
PFAM |
|
Pfam:PRKCSH
|
342 |
421 |
2e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129593
|
| SMART Domains |
Protein: ENSMUSP00000129078
Gene: ENSMUSG00000020311
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1c39a_
|
2 |
52 |
1e-3 |
SMART |
|
Pfam:PRKCSH
|
149 |
225 |
1.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143126
|
| SMART Domains |
Protein: ENSMUSP00000126490
Gene: ENSMUSG00000020311
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRKCSH
|
52 |
80 |
2.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203878
|
| SMART Domains |
Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
ANK
|
48 |
77 |
3.5e-2 |
SMART |
|
ANK
|
81 |
110 |
8e-3 |
SMART |
|
ANK
|
117 |
146 |
4.8e-5 |
SMART |
|
ANK
|
150 |
179 |
1.7e-7 |
SMART |
|
ANK
|
184 |
213 |
1.8e-4 |
SMART |
|
ANK
|
217 |
246 |
1.8e-6 |
SMART |
|
ANK
|
250 |
279 |
1.2e-7 |
SMART |
|
ANK
|
285 |
315 |
1.1e0 |
SMART |
|
ANK
|
318 |
347 |
1.2e-3 |
SMART |
|
ANK
|
354 |
385 |
7.7e-1 |
SMART |
|
SOCS
|
493 |
542 |
2.8e-4 |
SMART |
|
SOCS_box
|
499 |
541 |
1.6e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.2%
- 10x: 95.3%
- 20x: 89.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
T |
C |
5: 50,164,218 (GRCm39) |
M254V |
possibly damaging |
Het |
| Arrdc3 |
A |
G |
13: 81,038,817 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cntnap1 |
C |
A |
11: 101,075,536 (GRCm39) |
Q905K |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,288,244 (GRCm39) |
I256V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Gm10160 |
A |
T |
7: 81,505,497 (GRCm39) |
Y16N |
probably benign |
Het |
| Gm10608 |
C |
CNNNNNNNN |
9: 118,989,780 (GRCm39) |
|
probably null |
Het |
| H2-T13 |
A |
T |
17: 36,391,965 (GRCm39) |
V207D |
probably damaging |
Het |
| Kcna4 |
AGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGG |
2: 107,125,660 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,357,999 (GRCm39) |
D4488E |
probably benign |
Het |
| Ndufaf1 |
A |
G |
2: 119,486,156 (GRCm39) |
S319P |
probably damaging |
Het |
| Or5h25 |
A |
C |
16: 58,930,523 (GRCm39) |
V150G |
possibly damaging |
Het |
| Smad4 |
T |
C |
18: 73,782,982 (GRCm39) |
|
probably null |
Het |
| Spaca7 |
T |
C |
8: 12,623,139 (GRCm39) |
S12P |
probably damaging |
Het |
| Stx11 |
A |
G |
10: 12,817,155 (GRCm39) |
S190P |
probably damaging |
Het |
|
| Other mutations in Erlec1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Erlec1
|
APN |
11 |
30,898,510 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL00537:Erlec1
|
APN |
11 |
30,889,591 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00766:Erlec1
|
APN |
11 |
30,900,623 (GRCm39) |
nonsense |
probably null |
|
|
IGL01760:Erlec1
|
APN |
11 |
30,884,731 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02505:Erlec1
|
APN |
11 |
30,900,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02633:Erlec1
|
APN |
11 |
30,898,430 (GRCm39) |
nonsense |
probably null |
|
|
R0674:Erlec1
|
UTSW |
11 |
30,885,073 (GRCm39) |
intron |
probably benign |
|
|
R1974:Erlec1
|
UTSW |
11 |
30,889,604 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4326:Erlec1
|
UTSW |
11 |
30,899,972 (GRCm39) |
missense |
probably benign |
|
|
R4328:Erlec1
|
UTSW |
11 |
30,899,972 (GRCm39) |
missense |
probably benign |
|
|
R4392:Erlec1
|
UTSW |
11 |
30,893,697 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4641:Erlec1
|
UTSW |
11 |
30,898,442 (GRCm39) |
nonsense |
probably null |
|
|
R4697:Erlec1
|
UTSW |
11 |
30,902,640 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4917:Erlec1
|
UTSW |
11 |
30,884,710 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5486:Erlec1
|
UTSW |
11 |
30,885,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5735:Erlec1
|
UTSW |
11 |
30,900,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5775:Erlec1
|
UTSW |
11 |
30,893,848 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6475:Erlec1
|
UTSW |
11 |
30,898,442 (GRCm39) |
nonsense |
probably null |
|
|
R7027:Erlec1
|
UTSW |
11 |
30,900,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Erlec1
|
UTSW |
11 |
30,900,751 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7440:Erlec1
|
UTSW |
11 |
30,900,818 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8551:Erlec1
|
UTSW |
11 |
30,881,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Erlec1
|
UTSW |
11 |
30,898,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Erlec1
|
UTSW |
11 |
30,885,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAATGGAGAGCCCGGCAGTG -3'
(R):5'- CTTGGAAATCAGCCTTGAAACTCGC -3'
Sequencing Primer
(F):5'- CCGGCAGTGATTGACAGAATATG -3'
(R):5'- TTGAAGGTCAGATGACACCC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation